X linked agammaglobulinaemia with a 'leaky' phenotype |
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Authors: | A Jones L Bradley L Alterman M Tarlow R Thompson C Kinnon G Morgan |
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Affiliation: | Molecular Immunology Unit, Institute of Child Health, London. |
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Abstract: | Typical X linked agammaglobulinaemia (XLA) is characterised by absence of immunoglobulin production and lack of mature B cells. The gene responsible for XLA has recently been identified, and codes for a B cell tyrosine kinase, BTK. A family affected by a B cell immunodeficiency, which is less severe than classical XLA, is described but they had a pedigree suggestive of X linked inheritance. Demonstration of a mutation in the BTK gene confirms that this is a mild form of XLA. |
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